A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976565



Internal ID19240762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58762632..58762912hg38UCSC Ensembl
OuterchrX:114670492..114670787hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38281
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141076
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976565
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer